KEGG   DISEASE: H00802Help
Entry
H00802                      Disease                                

Name
Ehlers-Danlos syndrome (EDS), including:
EDS classical type (EDS1/2);
EDS hypermobility type (EDS3);
EDS vascular type (EDS4);
EDS kyphoscoliosis type (EDS6);
EDS arthrochalasia type (EDS7A/7B);
EDS dermatospraxis type (EDS7C);
EDS autosomal recessive cardiac valvular form (EDSCV);
EDS musculocontractural type (EDSMC);
EDS progeroid form (EDSP);
Tenascin-X deficiency (TNXD);
Brittle cornea syndrome (EDS6B);
EDS-like spondylocheiro dysplasia (SCD-EDS)
Description
Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens type I, III and V, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified  into six major types: classical type, hypermobility type, vascular type, kyphoscoliosis type, arthrochalasia type and dermatospraxis type. Additional minor variants of EDS have been identified with molecular and biochemical abnormalities: cardiac valvular form, musculocontractural type, progeroid form, tenascin-X deficiency, Brittle cornea syndrome, and EDS-like spondylocheiro dysplasia.
Category
Inherited metabolic disease; Connective tissue disease
BRITE hierarchy
Pathway
Focal adhesion  
ECM-receptor interaction  
Lysine degradation
Glycosaminoglycan biosynthesis - chondroitin sulfate
Glycosaminoglycan biosynthesis - heparan sulfate
Gene
(EDS1/7A) COL1A1 [HSA:1277] [KO:K06236]
(EDS7B/CV) COL1A2 [HSA:1278] [KO:K06236]
(EDS3/4) COL3A1 [HSA:1281] [KO:K06236]
(EDS1/2) COL5A1 [HSA:1289] [KO:K06236]
(EDS1) COL5A2 [HSA:1290] [KO:K06236]
(EDS6) PLOD [HSA:5351] [KO:K00473]
(EDS7C) ADAMTS2 [HSA:9509] [KO:K08618]
(EDSMC) CHST14 [HSA:113189] [KO:K08105]
(EDSP) B4GALT7 [HSA:11285] [KO:K00733]
(TNXD) TNXB [HSA:7148] [KO:K06252]
(EDS6B) ZNF469 [HSA:84627]
(SCD-EDS) SLC39A13 [HSA:91252] [KO:K14719]
Comment
EDS progeroid form (EDSP) is also described in H00121. [DS:H00121]
Other DBs
Reference
  Authors
Parapia LA, Jackson C
  Title
Ehlers-Danlos syndrome--a historical review.
  Journal
Br J Haematol 141:32-5 (2008)
Reference
  Authors
De Paepe A, Malfait F
  Title
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen  vascular disorders.
  Journal
Br J Haematol 127:491-500 (2004)
Reference
  Authors
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
  Title
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
  Journal
Am J Med Genet A 152A:1333-46 (2010)

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